Search results for " GCKR"

showing 2 items of 2 documents

Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort☆

2020

Background & Aims: Genetic factors associated with nonalcoholic fatty liver disease (NAFLD) remain incompletely understood. To date, most genome-wide association studies (GWASs) have adopted radiologically assessed hepatic triglyceride content as the reference phenotype and so cannot address steatohepatitis or fibrosis. We describe a GWAS encompassing the full spectrum of histologically characterised NAFLD. Methods: The GWAS involved 1,483 European NAFLD cases and 17,781 genetically matched controls. A replication cohort of 559 NAFLD cases and 945 controls was genotyped to confirm signals showing genome-wide or close to genome-wide significance. Results: Case-control analysis identified…

0301 basic medicineMaleCirrhosis17-Hydroxysteroid DehydrogenasesFibrosiVARIANTLOCIPROGRESSIONGenome-wide association studyDiseaseBioinformaticsDISEASECohort Studies0302 clinical medicineNon-alcoholic Fatty Liver DiseaseRisk FactorsGWASINCREASED RISKCONFERS SUSCEPTIBILITYeducation.field_of_studyFatty liverNASHMiddle Aged3. Good healthNAFLD; NASH; Fibrosis; GWAS; PNPLA3; TM6SF2; GCKR; HSD17B13; SNPPhenotypeLiver030211 gastroenterology & hepatologyFemaleLife Sciences & BiomedicineGCKRAdultPopulationSNP610 Medicine & healthGastroenterology and HepatologyPolymorphism Single NucleotideTM6SF2HSD17B1303 medical and health sciencesNAFLDmedicineGastroenterologiHumansGenetic Predisposition to DiseaseeducationPNPLA3Adaptor Proteins Signal TransducingScience & TechnologyGastroenterology & HepatologyHepatologybusiness.industrynutritional and metabolic diseasesMembrane ProteinsLipasemedicine.diseaseFibrosisPOLYMORPHISMLEPTIN RECEPTOR GENE030104 developmental biology3121 General medicine internal medicine and other clinical medicineCase-Control StudiesHuman medicineSteatosisSteatohepatitisbusinessTM6SF2Genome-Wide Association StudyJournal of Hepatology
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Glucokinase Regulatory Protein Gene Polymorphism Affects Liver Fibrosis in Non-Alcoholic Fatty Liver Disease

2014

BACKGROUND AND AIMS: Variant in glucokinase regulatory protein (GCKR), associated with lipid and glucose traits, has been suggested to affect fatty liver infiltration. We aimed to assess whether GCKR rs780094 C-->T SNP influences the expression of steatosis, lobular inflammation and fibrosis in NAFLD patients, after correction for PNPLA3 genotype. METHODS: In 366 consecutive NAFLD patients (197 from Sicily, and 169 from center/northern Italy), we assessed anthropometric, biochemical and metabolic features; liver biopsy was scored according to Kleiner. PNPLA3 rs738409 C>G and GCKR rs780094 C>T single nucleotide polymorphisms were also assessed. RESULTS: At multivariate logistic regression an…

Liver CirrhosisMalelcsh:MedicineNonalcoholic SteatohepatitisGene FrequencyFibrosisMedicineProspective Studieslcsh:ScienceSicilyliver fibrosisSettore MED/12 - GastroenterologiaMultidisciplinarymedicine.diagnostic_testGlucokinase regulatory proteinbiologyLiver DiseasesFatty liverMiddle Aged3. Good healthItalyLiver biopsyMedicineFemaleResearch ArticleAdultmedicine.medical_specialtyNAFLD GCKRGenotypeGENETICSgene polymorphismSingle-nucleotide polymorphismGastroenterology and HepatologyGLUCKINASESettore MED/08 - Anatomia PatologicaPolymorphism Single NucleotideNAFLDInternal medicineHumansGenetic Predisposition to DiseaseBiologySettore MED/42 - IGIENE GENERALE E APPLICATATriglyceridesPNPLA3Adaptor Proteins Signal TransducingEvolutionary BiologyPopulation Biologybusiness.industrylcsh:RSettore MED/09 - MEDICINA INTERNAComputational BiologyMembrane Proteinsnon-alcoholic fatty liver diseaseLipasePolymorphysmmedicine.diseaseLogistic ModelsEndocrinologyMetabolic DisordersMultivariate AnalysisGenetic Polymorphismbiology.proteinlcsh:QGlucokinase regulatory proteinGene polymorphismSteatosisSteatohepatitisbusinessPopulation GeneticsSteatohepatiti
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